Search Ontology:
Human Disease

primary autosomal recessive microcephaly 1

Term ID
DOID:0070285
Synonyms
  • MCPH1
Definition
A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the MCPH1 gene on chromosome 8p23. https://www.ncbi.nlm.nih.gov/pubmed/12046007
References
Ontology
Human Disease   ( DOID:0070285 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models